Variant report

Variant	rs2715096
Chromosome Location	chr7:50730008-50730009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50726075..50728513-chr7:50729763..50731753,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1468449	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2190497	0.92[EUR][1000 genomes]
rs2237449	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237451	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529393	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2529419	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529422	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529424	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715109	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715117	0.93[EUR][1000 genomes]
rs2715127	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715143	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974769	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50701000-50733600	Weak transcription	A549	lung
2	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:50701200-50733600	Weak transcription	K562	blood
4	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:50710000-50733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
11	chr7:50720600-50739400	Enhancers	Right Atrium	heart
12	chr7:50722000-50737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:50723000-50732400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:50723600-50735200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:50725400-50737600	Enhancers	Psoas Muscle	Psoas
17	chr7:50726000-50731000	Weak transcription	Aorta	Aorta
18	chr7:50726000-50734200	Weak transcription	Fetal Heart	heart
19	chr7:50726000-50734600	Strong transcription	Fetal Stomach	stomach
20	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
21	chr7:50726200-50731000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:50726200-50731000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:50726200-50731000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:50726200-50732000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:50726600-50733600	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:50726600-50734800	Weak transcription	Fetal Lung	lung
27	chr7:50727200-50732200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:50727200-50734600	Genic enhancers	Pancreas	Pancrea
29	chr7:50727400-50730600	Genic enhancers	Right Ventricle	heart
30	chr7:50727400-50731800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:50727400-50734600	Strong transcription	Fetal Intestine Small	intestine
32	chr7:50727600-50732200	Enhancers	Fetal Thymus	thymus
33	chr7:50727600-50732400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:50727600-50733600	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:50727800-50737400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:50728200-50730400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr7:50728200-50730800	Enhancers	Spleen	Spleen
38	chr7:50728200-50731200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:50728200-50731200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:50728200-50732200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:50728200-50732400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:50728400-50730200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:50728400-50730400	Enhancers	Primary B cells from cord blood	blood
44	chr7:50728400-50730800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr7:50728400-50730800	Enhancers	GM12878-XiMat	blood
46	chr7:50728400-50731400	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:50728400-50731400	Enhancers	Thymus	Thymus
48	chr7:50728400-50731600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:50728400-50731800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:50728400-50732000	Genic enhancers	Liver	Liver

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